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10. Issues of Diagnosing Rohhad Syndrome

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10. Issues of Diagnosing Rohhad Syndrome Medical Journal of Zambia, Vol. 47 (1): 63 - 69 (2020) CASE REPORT Issues of diagnosing ROHHAD Syndrome in a 2-year-old girl : A Case Report and Review of Literature L.V. Pushko1, T.A. Gutyrchik2, D.Yu. Ovsyannikov1, 2 N.A. Gutyrchik1, N.I. Petruk1, N.A.Petrova2, Mwela Bupe Mumba1 1Department of Paediatrics and Child Health, Peoples' Friendship University of Russia; 2Morozovskaya Children's Hospital, Moscow, Russia. ABSTRACT disease is respiratory disorders in the form of sleep apnea, alveolar hypoventilation [3-4]. In contrast to We present a clinical case of ROHHAD syndrome. the syndrome of congenital Central alveolar In this article we discuss the rare occurrence of this hypoventilation (Ondine's curse), ROHHAD- pathology and, as a result, the issues encountered in syndrome is characterized by late-onset, severe the diagnosis and treatment of such children. Thus, hypothalamic and autonomic disorders, the absence in highlighting the problem, the team of Authors set of mutations in PHOX2B gene, leading to a the goal of emphasizing the importance of timely congenital syndrome [5-7]. diagnosis, as well as correctly selecting From birth, children with ROHHAD-syndrome comprehensive treatment for children with grow and develop physiologically, but at the age of ROHHAD syndrome. 1.5–7 years, a sharp increase in body weight begins – INTRODUCTION AND LITERATURE rapidly progressing obesity, weight gain for 6-12 REVIEW months, it can be from 10 to 20 kg- as a result of hypothalamic dysfunction and polyphagia [3, 8, 9]. ROHHAD is an acronym for rapid-onset obesity After rapid weight gain, children develop respiratory (RO) with hypothalamic dysregulation (H), disorders in the form of obstructive apnea and hypoventilation (H) and autonomic dysregulation hypoventilation due to loss of vegetative control (AD). According to the international classification over the breathing process. Children with this of sleep disorders ICSD-3 2014, it is a type of syndrome develop alveolar hypoventilation with sleeping- dependent hypoventilation and is a rare hypercapnia and hypoxemia (hypoxemia has an genetic disease that manifests after 2 years of life in auxiliary diagnostic value) during sleep. However, previously healthy children [1-2]. There are about the development of hypoventilation is not always 100 clinical cases with this syndrome in the world obvious, since the child does not feel it, as in the [3]. The abbreviation ROHHAD describes a typical syndrome of congenital Central alveolar sequence of symptoms and stands for rapidly hypoventilation. In more severe patients, progressive Rapid-onset Obesity with hypothalamic hypoventilation may also occur while awake, which dysregulation, Hypoventilation and autonomic can lead to respiratory and cardiac arrest [4]. dysfunction [1-3]. A dangerous manifestation of the Hypothalamic dysfunction is manifested by fluid- Corresponding author: electrolyte imbalances in form of Hypo - or Mwela Bupe Mumba Department of Paediatrics and Child Health, Peoples' Keywords: ROHHAD syndrome, rapid-onset obesity, Friendship University of Russia hypothalamic dysregulation, hypoventilation, Autonomic E-mail: [email protected] dysregulation, the acid-base balance of the blood 63 Medical Journal of Zambia, Vol. 47 (1): 63 - 69 (2020) hypernatremia as a result of vasopressin deficiency day. Detection of the level of PaCO2>50 mm Hg and or reduced secretion of antidiuretic hormone; high SpO2<95% and allows to establish the diagnosis of levels of prolactin; low levels of thyroid hormones, "awake" hypoventilation [4]. In the development of cortisol, and somatotropic hormone; delay or early sudden obesity, a targeted assessment of ventilation puberty; impaired glucose tolerance. Vegetative by pulse oximetry and capnography is necessary dysfunction manifests itself as eye changes (lack of during sleep and when awake. It is recommended to response of the pupils to light, strabismus); conduct a comprehensive examination: a detailed violations of intestinal motility, which leads to physiological assessment of breathing when awake constipation or diarrhea; episodes of increased body as well as during sleep, a comprehensive temperature, sweating; decreased pain sensitivity; cardiological assessment, including 72-hour Holter bradycardia. Patients with ROHHAD-syndrome are monitoring of electrocardiography, veloergometry also characterized by behavioral disorders, mood (physical tolerance or exercise test) and and mental retardation, obsessive disorders with echocardiography (with the determination of episodes of psychosis, and autistic disorders. pressure in the pulmonary artery due to the However, a surprisingly high percentage of children with ROHHAD syndrome have a normal or high possibility of developing pulmonary hypertension level of intelligence. Some of them develop due to hypoxemia), neurocognitive testing to assess seizures, which may be caused by hypoxemia due to intellectual development as a marker of neurological insufficient respiratory protection supports. status. It is also necessary to examine the endocrine system to determine the symptoms of hypothalamic Approximately 40% of ROHHAD - syndrome dysfunction and/or pituitary pathologies. It is also Patients develop tumors that occur in the neural important that if hypercalcemic dehydration is crest, such as ganglioneuroblastomas. In this regard, noted, one should determine the secretion of the it was proposed to rename ROHHAD-syndrome to antidiuretic hormone before assuming the diagnosis ROHHADNET-syndrome (Rapid-onset Obesity of "diabetes insipidus ". Obesity can alter the Hypoventilation Hypothalamic Autonomous secretion of growth hormone and the level of insulin- Dysregulation Neural Endocrinological Tumor) to like growth factor-1 (IGF-1), which should be taken include these tumors in the diagnostic criteria, but into account when evaluating the function of growth this was accepted only for patients who develop hormone. It is necessary to take into account such these tumors. The development of tumors is complications of obesity as fatty liver dystrophy, associated with mutations in the PHOX2B gene. impaired lipid metabolism or diabetes mellitus. It is important to conduct computer tomography of the To confirm ROHHAD-syndrome, the following chest and abdominal organs to detect tumors of the criteria must be present: 1) the onset of rapid and neural crest [10]. extreme weight gain after 1.5 years (usually after 2- 7 years) in a previously healthy child; 2) evidence of Treatment of ROHHAD-syndrome is currently hypothalamus dysfunction; 3) alveolar symptomatic. Obesity is extremely difficult to hypoventilation; 4) features of vegetative control through diet and exercise, and measures are dysregulation. needed to prevent further weight gain. Since patients with ROHHAD-syndrome do not improve their Additional screening for ROHHAD syndrome breathing adequately during exercise, it is important includes nighttime polysomnography to determine to recommend moderate loads whose safe any signs of obstructive sleep apnea. Daytime parameters are based on monitoring the PaCO2 level hypoventilation can be diagnosed by monitoring and pulse oximetry during training. levels of carbon dioxide (PaCO2) and blood oxygen saturation (peripheral saturation, SpO2) during the 64 Medical Journal of Zambia, Vol. 47 (1): 63 - 69 (2020) Hypothalamus dysfunction observed in these Other assisted breathing techniques, such as patients should be evaluated and treated by a diaphragm stimulation, may have limited success pediatric endocrinologist. Treatment methods may due to obesity-associated with ROHHAD- include hormone replacement therapy, a strict fluid syndrome, but they should be considered in some intake regime, and other measures. It is shown that patients. the introduction of growth hormone improves body Patients with ROHHAD syndrome are at risk of composition, and the use of dopamine agonists to bradycardia, which can be eliminated only after the normalize prolactin levels does not change the installation of a pacemaker. The lack of temperature clinical course of the disease [11]. control requires careful regulation of the ambient One of the main problems in patients with temperature and attention to low body temperatures. ROHHAD syndrome is a violation of respiratory For chronic constipation due to impaired motility of control. It is important to remember that the isolated the gastrointestinal tract, laxatives are prescribed. supply of oxygen does not eliminate Tumors from the neural crest require surgical hypoventilation. Alveolar hypoventilation requires removal, however, to date, surgical removal of invasive or non-invasive ventilation to ensure neural crest tumors has not reduced the deployment adequate ventilation, prevent atelectasis and of the ROHHAD syndrome phenotype and has not attachment of lower respiratory tract infection, as caused recovery from the disease. An well as due to the risk of apnea and acute interdisciplinary team of specialists, including an cardiorespiratory insufficiency, while CPAP therapy endocrinologist, pulmonologist, cardiologist, (Constant Positive Airway Pressure, continuous intensive care doctor, respiratory specialist, positive airway pressure) is effective for obstructive otorhinolaryngologist, surgeon, oncologist, sleep apnea syndrome, respiratory disorders due to gastroenterologist, neurologist, ophthalmologist, upper respiratory tract obstruction [13]. psychologist, psychiatrist, speech therapist, and Some children with ROHHAD syndrome may special
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